Canonical Allele Identifier: CA599057983
Gene: MYBPC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1608675
ClinVar RCV Id: RCV002147613 RCV003533122
dbSNP Id: rs1198626772
gnomAD v2: 11-47356772-GA-G
gnomAD v4: 11-47335221-GA-G
MyVariant Identifiers: chr11:g.47356773del (hg19) chr11:g.47335222del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47335222del , CM000673.2:g.47335222del GRCh38
NC_000011.9:g.47356773del , CM000673.1:g.47356773del GRCh37
NC_000011.8:g.47313349del NCBI36
NG_007667.1:g.22481del , LRG_386:g.22481del

Transcript Alleles

HGVS Amino-acid change
ENST00000545968.6:c.2738-13del MANE Select ENSP00000442795.1:n.2738-13del
ENST00000256993.8:c.2738-13del ENSP00000256993.5:n.2738-13del
ENST00000399249.6:c.2738-13del ENSP00000382193.2:n.2738-13del
ENST00000545968.5:c.2738-13del ENSP00000442795.1:n.2738-13del
NM_000256.3:c.2738-13del , LRG_386t1:c.2738-13del MANE Select NP_000247.2:n.2738-13del
XM_011520117.1:c.2720-13del XP_011518419.1:n.2720-13del
XM_011520118.1:c.2657-13del XP_011518420.1:n.2657-13del
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